Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network

[1]  A. Fagan,et al.  Discovery and validation of autosomal dominant Alzheimer’s disease mutations , 2018, Alzheimer's Research & Therapy.

[2]  K. Kosik,et al.  iPhemap: an atlas of phenotype to genotype relationships of human iPSC models of neurological diseases , 2017, EMBO molecular medicine.

[3]  Davis J. McCarthy,et al.  Common genetic variation drives molecular heterogeneity in human iPSCs , 2017, Nature.

[4]  K. Brennand,et al.  An Efficient Platform for Astrocyte Differentiation from Human Induced Pluripotent Stem Cells , 2017, bioRxiv.

[5]  L. Delbridge,et al.  Friedreich's ataxia induced pluripotent stem cell-derived cardiomyocytes display electrophysiological abnormalities and calcium handling deficiency , 2017, Aging.

[6]  Michael D. Cahalan,et al.  iPSC-Derived Human Microglia-like Cells to Study Neurological Diseases , 2017, Neuron.

[7]  D. Mackey,et al.  Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy , 2017, Aging.

[8]  Matheus B. Victor,et al.  Maintenance of age in human neurons generated by microRNA-based neuronal conversion of fibroblasts , 2016, eLife.

[9]  L. Tsai,et al.  Self-Organizing 3D Human Neural Tissue Derived from Induced Pluripotent Stem Cells Recapitulate Alzheimer’s Disease Phenotypes , 2016, PloS one.

[10]  Li-Huei Tsai,et al.  Efficient derivation of microglia-like cells from human pluripotent stem cells , 2016, Nature Medicine.

[11]  Florian G. Metzger,et al.  Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants , 2016, Neurobiology of Aging.

[12]  Mingqiang Xie,et al.  Neuropathologic assessment of participants in two multi‐center longitudinal observational studies: The Alzheimer Disease Neuroimaging Initiative (ADNI) and the Dominantly Inherited Alzheimer Network (DIAN) , 2015, Neuropathology : official journal of the Japanese Society of Neuropathology.

[13]  Rudolph E. Tanzi,et al.  Effect of potent γ-secretase modulator in human neurons derived from multiple presenilin 1-induced pluripotent stem cell mutant carriers. , 2014, JAMA neurology.

[14]  Michelle K. Lupton,et al.  Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease , 2014, Neurobiology of Aging.

[15]  Nick C Fox,et al.  Symptom onset in autosomal dominant Alzheimer disease , 2014, Neurology.

[16]  A. Goate,et al.  Alzheimer’s Disease Genetics: From the Bench to the Clinic , 2014, Neuron.

[17]  D. Selkoe,et al.  The familial Alzheimer's disease APPV717I mutation alters APP processing and Tau expression in iPSC-derived neurons. , 2014, Human molecular genetics.

[18]  Reisa A. Sperling,et al.  Longitudinal Change in CSF Biomarkers in Autosomal-Dominant Alzheimer’s Disease , 2014, Science Translational Medicine.

[19]  Kun Zhang,et al.  The presenilin-1 ΔE9 mutation results in reduced γ-secretase activity, but not total loss of PS1 function, in isogenic human stem cells. , 2013, Cell reports.

[20]  David A. Bennett,et al.  The PSEN1, p.E318G Variant Increases the Risk of Alzheimer's Disease in APOE-ε4 Carriers , 2013, PLoS genetics.

[21]  Tammie L. S. Benzinger,et al.  Increased in Vivo Amyloid-β42 Production, Exchange, and Loss in Presenilin Mutation Carriers , 2013, Science Translational Medicine.

[22]  A. Goate,et al.  Expression of Novel Alzheimer’s Disease Risk Genes in Control and Alzheimer’s Disease Brains , 2012, PloS one.

[23]  Steven Finkbeiner,et al.  Progranulin deficiency promotes neuroinflammation and neuron loss following toxin-induced injury. , 2012, The Journal of clinical investigation.

[24]  A. Fagan,et al.  Developing an international network for Alzheimer research: The Dominantly Inherited Alzheimer Network. , 2012, Clinical investigation.

[25]  Nick C Fox,et al.  Clinical and biomarker changes in dominantly inherited Alzheimer's disease. , 2012, The New England journal of medicine.

[26]  Murat Emre,et al.  Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients , 2012, Neurobiology of Aging.

[27]  John Hardy,et al.  Genetic testing in familial and young-onset Alzheimer's disease: mutation spectrum in a Serbian cohort , 2012, Neurobiology of Aging.

[28]  Marc Cruts,et al.  Locus-Specific Mutation Databases for Neurodegenerative Brain Diseases , 2012, Human mutation.

[29]  R. Tanzi,et al.  Role of common and rare APP DNA sequence variants in Alzheimer disease , 2012, Neurology.

[30]  B. de Strooper,et al.  The mechanism of γ-Secretase dysfunction in familial Alzheimer disease , 2012, The EMBO journal.

[31]  S. Orkin,et al.  A Human Stem Cell Model of Early Alzheimer’s Disease Pathology in Down Syndrome , 2012, Science Translational Medicine.

[32]  John Hardy,et al.  The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE , 2012, Neurobiology of Aging.

[33]  Jennifer Williamson,et al.  Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families , 2012, PloS one.

[34]  Kristopher L. Nazor,et al.  Probing sporadic and familial Alzheimer’s disease using induced pluripotent stem cells , 2012, Nature.

[35]  H. Okano,et al.  Modeling familial Alzheimer's disease with induced pluripotent stem cells. , 2011, Human molecular genetics.

[36]  Naoki Nishishita,et al.  Efficient generation of transgene-free human induced pluripotent stem cells (iPSCs) by temperature-sensitive Sendai virus vectors , 2011, Proceedings of the National Academy of Sciences.

[37]  G. Lenzi,et al.  Presenilin 2 mutation R71W in an Italian early-onset sporadic Alzheimer’s disease case , 2011, Journal of Neurology.

[38]  J. Morris,et al.  Alzheimer’s Disease: The Challenge of the Second Century , 2011, Science Translational Medicine.

[39]  Blake Byers,et al.  LRRK2 mutant iPSC-derived DA neurons demonstrate increased susceptibility to oxidative stress. , 2011, Cell stem cell.

[40]  G. Small,et al.  Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation , 2011, Neuroscience Letters.

[41]  Chengjie Xiong,et al.  Autosomal-dominant Alzheimer's disease: a review and proposal for the prevention of Alzheimer's disease , 2011, Alzheimer's Research & Therapy.

[42]  S. Chandran,et al.  Human Stem Cell-Derived Neurons: A System to Study Human Tau Function and Dysfunction , 2010, PloS one.

[43]  G. Lenzi,et al.  The London APP Mutation (Val717Ile) Associated with Early Shifting Abilities and Behavioral Changes in Two Italian Families with Early-Onset Alzheimer’s Disease , 2010, Dementia and Geriatric Cognitive Disorders.

[44]  A. Singleton,et al.  Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP , 2010, Neurobiology of Aging.

[45]  S. Pappatà,et al.  Worldwide distribution of PSEN1 Met146Leu mutation , 2010, Neurology.

[46]  C. Ki,et al.  Presenilin 1 gene mutation (M139I) in a patient with an early-onset Alzheimer’s disease: clinical characteristics and genetic identification , 2010, Neurological Sciences.

[47]  A. Goate,et al.  PRESENILIN1 G217R MUTATION LINKED TO ALZHEIMER DISEASE WITH COTTON WOOL PLAQUES , 2009, Neurology.

[48]  E. Koo,et al.  Amyloid Precursor Protein Trafficking, Processing, and Function* , 2008, Journal of Biological Chemistry.

[49]  Hynek Wichterle,et al.  Induced Pluripotent Stem Cells Generated from Patients with ALS Can Be Differentiated into Motor Neurons , 2008, Science.

[50]  Joseph T. Glessner,et al.  PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. , 2007, Genome research.

[51]  P. Scheltens Clinicopathological concordance and discordance in three monozygotic twin pairs with familial Alzheimer’s disease , 2007, Journal of Neurology, Neurosurgery, and Psychiatry.

[52]  A. Bruni,et al.  Presenilin 2 Ser130Leu mutation in a case of late-onset “sporadic” Alzheimer’s disease , 2007, Journal of Neurology.

[53]  C. Yau,et al.  QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data , 2007, Nucleic acids research.

[54]  S. Yamanaka,et al.  Induction of Pluripotent Stem Cells from Mouse Embryonic and Adult Fibroblast Cultures by Defined Factors , 2006, Cell.

[55]  J. Cummings,et al.  The A431E mutation in PSEN1 causing Familial Alzheimer’s Disease originating in Jalisco State, Mexico: an additional fifteen families , 2006, Neurogenetics.

[56]  M. Tusié-Luna,et al.  Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer’s disease in Mexican families , 2006, Neurogenetics.

[57]  W. V. van Gorp,et al.  A second family with familial AD and the V717L APP mutation has a later age at onset , 2006, Neurology.

[58]  D. Campion,et al.  Molecular diagnosis of autosomal dominant early onset Alzheimer’s disease: an update , 2005, Journal of Medical Genetics.

[59]  M. Anagnostouli,et al.  Novel mutations and repeated findings of mutations in familial Alzheimer disease , 2005, Neurogenetics.

[60]  G. Schellenberg,et al.  APOE and other loci affect age‐at‐onset in Alzheimer's disease families with PS2 mutation , 2005, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[61]  A. Goate,et al.  Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Aβ 42/40 ratios , 2005, Journal of neurochemistry.

[62]  P. Schofield,et al.  Pick bodies in a family with presenilin‐1 Alzheimer's disease , 2005, Annals of neurology.

[63]  K. Sleegers,et al.  Familial clustering and genetic risk for dementia in a genetically isolated Dutch population. , 2004, Brain : a journal of neurology.

[64]  Joanna L. Jankowsky,et al.  Mutant presenilins specifically elevate the levels of the 42 residue β-amyloid peptide in vivo: evidence for augmentation of a 42-specific γ secretase , 2004 .

[65]  A. Pfeffer,et al.  Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland , 2003, Experimental Neurology.

[66]  Sandro Sorbi,et al.  Identification of new presenilin gene mutations in early-onset familial Alzheimer disease. , 2003, Archives of neurology.

[67]  M. Mattson,et al.  Triple-Transgenic Model of Alzheimer's Disease with Plaques and Tangles Intracellular Aβ and Synaptic Dysfunction , 2003, Neuron.

[68]  B. Strooper,et al.  Aph-1, Pen-2, and Nicastrin with Presenilin Generate an Active γ-Secretase Complex , 2003, Neuron.

[69]  L. Lannfelt,et al.  The Arctic mutation interferes with processing of the amyloid precursor protein , 2002, Neuroreport.

[70]  J. H. Lee,et al.  A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. , 2001, JAMA.

[71]  You-Qiang Song,et al.  Screening for PS1 mutations in a referral-based series of AD cases , 2001, Neurology.

[72]  D. Mann,et al.  Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease. , 2001, The American journal of pathology.

[73]  B. Ghetti,et al.  Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene. , 2000, Archives of neurology.

[74]  C. Mangone,et al.  Presenilin 1 Met146Leu variant due to an A&T transversion in an early‐onset familial Alzheimer's disease pedigree from Argentina , 1998, Clinical genetics.

[75]  T. Sugihara,et al.  Japanese siblings with missense mutation (717Val right arrow Ile) in amyloid precursor protein of early-onset Alzheimer's disease , 1996, Neurology.

[76]  B. Hyman,et al.  Alzheimer–associated presenilins 1 and 2 : Neuronal expression in brain and localization to intracellular membranes in mammalian cells , 1996, Nature Medicine.

[77]  R. Martins,et al.  A mutation in codon 717 of the amyloid precursor protein gene in an Australian family with Alzheimer's disease , 1995, Neuroscience Letters.

[78]  S. Sorbi,et al.  Epistatic effect of APP717 mutation and apolipoprotein E genotype in familial Alzheimer's disease , 1995, Annals of neurology.

[79]  D. Selkoe,et al.  Mutation of the β-amyloid precursor protein in familial Alzheimer's disease increases β-protein production , 1992, Nature.

[80]  M. Pericak-Vance,et al.  Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease , 1991, Nature.

[81]  S. M. Sumi,et al.  Familial alzheimer's disease in american descendants of the volga germans: Probable genetic founder effect , 1988, Annals of neurology.

[82]  C. Brayne,et al.  Understanding the roles of mutations in the amyloid precursor protein in Alzheimer disease , 2018, Molecular Psychiatry.

[83]  J. Pariente,et al.  The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers. , 2012, Journal of Alzheimer's disease : JAD.

[84]  D. Munoz,et al.  Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations. , 2010, Journal of Alzheimer's disease : JAD.

[85]  J. Hardy,et al.  The Amyloid Hypothesis of Alzheimer ’ s Disease : Progress and Problems on the Road to Therapeutics , 2009 .

[86]  D. Campion,et al.  APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy , 2006, Nature Genetics.

[87]  R. Nitsch,et al.  High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes. , 2000, American journal of human genetics.

[88]  C. van Broeckhoven,et al.  Presenilin mutations in Alzheimer's disease , 1998, Human mutation.

[89]  G. Schellenberg,et al.  Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene , 1998, Human mutation.